HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44385698G>C , CM000679.2:g.44385698G>C | GRCh38 |
NC_000017.10:g.42463066G>C , CM000679.1:g.42463066G>C | GRCh37 |
NC_000017.9:g.39818592G>C | NCBI36 |
NG_008331.1:g.8808C>G , LRG_479:g.8808C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262407.6:c.427C>G MANE Select | ENSP00000262407.5:p.His143Asp | |
ENST00000262407.5:c.427C>G | ENSP00000262407.5:p.His143Asp | |
ENST00000592944.1:n.112C>G | ||
NM_000419.3:c.427C>G , LRG_479t1:c.427C>G | NP_000410.2:p.His143Asp | |
XM_011524749.1:c.427C>G | XP_011523051.1:p.His143Asp | |
XM_011524750.1:c.427C>G | XP_011523052.1:p.His143Asp | |
NM_000419.4:c.427C>G | NP_000410.2:p.His143Asp | |
NM_000419.5:c.427C>G MANE Select | NP_000410.2:p.His143Asp |